TERT

telomerase reverse transcriptase
OMIM: 187270
PanelMode of inheritanceDetails
9 panels
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Dyskeratosis congenita, autosomal recessive 4}, 613989, {Dyskeratosis congenita, autosomal dominant 2}, 613989
R-numbers: R91
Signed-off version 1.29
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Pulmonary fibrosis, telomere-related, 1}, 614742, {Dyskeratosis congenita, autosomal dominant 2}, 613989, Coronary artery disease, {Melanoma, cutaneous malignant, 9}, 615134, 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, Aplastic Anemia, 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, {Leukemia, acute myeloid}, 601626, 613989 Dyskeratosis congenita, {Dyskeratosis congenita, autosomal recessive 4}, 613989
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 4
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Bone marrow failure, macrocytosis, Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, 613989
R-numbers: R347
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
601626 {Leukemia, acute myeloid}, 187270 (OMIN gene description ID), 187270 / 601626 {Leukemia, acute myeloid}, Dyskeratosis congenita, autosomal dominant 2, 613989, Dyskeratosis congenita, autosomal recessive 4, 613989, Leukemia, acute myeloid} 601626, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742
R-numbers: R236
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2, DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED, Melanoma, Dyskeratosis congenita, DKCB4, INCLUDED
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
R-numbers: R359
Signed-off version 2.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Dyskeratosis congenita, autosomal recessive 4}, 613989, {Dyskeratosis congenita, autosomal dominant 2}, 613989